Details of Disease | DrugMAP

General Information of Disease (ID: DISKZL6E)

Disease Name	Liddle syndrome 1
Synonyms	Liddle syndrome; LIDLS1; Pseudoaldosteronism; Liddle syndrome caused by mutation in SCNN1B; Liddle syndrome 1; SCNN1B Liddle syndrome
Definition	Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1B gene.
Disease Hierarchy	DISY0X0N: Liddle syndrome DISKZL6E: Liddle syndrome 1

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SCNN1B	OT61QQTL	Strong	Autosomal dominant	[1]
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References

1	Liddle's syndrome caused by a novel mutation in the proline-rich PY motif of the epithelial sodium channel beta-subunit. J Clin Endocrinol Metab. 2005 Jan;90(1):340-4. doi: 10.1210/jc.2004-1027. Epub 2004 Oct 13.